Publications:

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Cognitive functioning and mental health in children with a primary mitochondrial disease.

Orphanet Journal Of Rare Diseases

van de Loo, Kim F E KFE; Custers, José A E JAE; de Boer, Lonneke L; van Lieshout, Marloes M; de Vries, Maaike C MC; Janssen, Mirian C H MCH; Verhaak, Christianne M CM

Publication Date: 2022-10-01

Variant appearance in text: NDUFS1: 683T>C; Val228Ala

PubMed Link: 36183138

Variant Present in the following documents:

• 13023_2022_Article_2510.pdf

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Lip cyanosis as the first symptom of Leigh syndrome associated with mitochondrial complex I deficiency due to a compound heterozygous NDUFS1 mutation: A case report.

Medicine

Men, Lina L; Feng, Jinxing J; Huang, Weimin W; Xu, Mingguo M; Zhao, Xiaoli X; Sun, Ruixin R; Xu, Jianfang J; Cao, Liming L

Publication Date: 2022-08-26

Variant appearance in text: NDUFS1: 683T>C

PubMed Link: 36042640

Variant Present in the following documents:

• medi-101-e30303.pdf

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: NDUFS1: V228A; rs370411488

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Coenzyme Q10 modulates sulfide metabolism and links the mitochondrial respiratory chain to pathways associated to one carbon metabolism.

Human Molecular Genetics

González-García, Pilar P; Hidalgo-Gutiérrez, Agustín A; Mascaraque, Cristina C; Barriocanal-Casado, Eliana E; Bakkali, Mohammed M; Ziosi, Marcello M; Abdihankyzy, Ussipbek Botagoz UB; Sánchez-Hernández, Sabina S; Escames, Germaine G; Prokisch, Holger H; Martín, Francisco F; Quinzii, Catarina M CM; López, Luis C LC

Publication Date: 2020-11-25

Variant appearance in text: NDUFS1: 683T>C; V228A

PubMed Link: 32975579

Variant Present in the following documents:

• supplemental_material_gonzalez-garcia_hmg2020_ddaa214.pdf

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: NDUFS1: 683T>C; V228A

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: rs370411488

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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Mutations in NDUFS1 Cause Metabolic Reprogramming and Disruption of the Electron Transfer.

Cells

Ni, Yang Y; Hagras, Muhammad A MA; Konstantopoulou, Vassiliki V; Mayr, Johannes A JA; Stuchebrukhov, Alexei A AA; Meierhofer, David D

Publication Date: 2019-09-25

Variant appearance in text: NDUFS1: 683T>C; Val228Ala

PubMed Link: 31557978

Variant Present in the following documents:

• Main text
• cells-08-01149.pdf

View BVdb publication page

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Mitochondrial Genetic Disorders: Cell Signaling and Pharmacological Therapies.

Cells

Djouadi, Fatima F; Bastin, Jean J

Publication Date: 2019-03-28

Variant appearance in text: NDUFS1: Val228Ala

PubMed Link: 30925787

Variant Present in the following documents:

• Main text
• cells-08-00289.pdf

View BVdb publication page

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A Critical Assessment of the Therapeutic Potential of Resveratrol Supplements for Treating Mitochondrial Disorders.

Nutrients

De Paepe, Boel B; Van Coster, Rudy R

Publication Date: 2017-09-14

Variant appearance in text: NDUFS1: 683T>C

PubMed Link: 28906460

Variant Present in the following documents:

• Main text
• nutrients-09-01017.pdf

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Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

Journal Of Inherited Metabolic Disease

Koene, S S; Rodenburg, R J RJ; van der Knaap, M S MS; Willemsen, M A A P MA; Sperl, W W; Laugel, V V; Ostergaard, E E; Tarnopolsky, M M; Martin, M A MA; Nesbitt, V V; Fletcher, J J; Edvardson, S S; Procaccio, V V; Slama, A A; van den Heuvel, L P W J LP; Smeitink, J A M JA

Publication Date: 2012-09

Variant appearance in text: NDUFS1: Val228Ala

PubMed Link: 22644603

Variant Present in the following documents:

• 10545_2012_9492_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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